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Article

Analysis of complex structural variants in the DMD gene in one family.

Neuromuscular disorders : NMD - 1 Mar 2021

Luce Leonela, Abelleyro Martín M, Carcione Micaela, Mazzanti Chiara, Rossetti Liliana, Radic Pamela, Szijan Irene, Menazzi Sebastián, Francipane Liliana, Nevado Julián, Lapunzina Pablo, De Brasi Carlos, Giliberto Florencia

Abstract excerpt

This work describes a family with Duchenne muscular dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary aim was to suggest the molecular mechanisms causing the complex structural variant (cxSV) identified. To accomplish this, we used a multi-technique algorithm including segregation analysis,...

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Identifiers

PMID: 33451931
DOI: 10.1016/j.nmd.2020.11.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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